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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FSHB
follicle stimulating hormone subunit beta
Chromosome 11 Β· 11p14.1
NCBI Gene: 2488Ensembl: ENSG00000131808.11HGNC: HGNC:3964UniProt: A0A0F7RQE8
111PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615cytoplasmfollicle-stimulating hormone complexfollicle-stimulating hormone activityIsolated follicle stimulating hormone deficiencyhypogonadotropic hypogonadism 24 without anosmiaendometriosispolycystic ovary syndrome
✦AI Summary

FSHB encodes follicle-stimulating hormone beta subunit, a critical reproductive hormone component. Together with the alpha chain CGA, FSHB forms follitropin (FSH), a glycoprotein heterodimer where the beta subunit determines biological specificity 1. FSH binds FSHR, a G protein-coupled receptor on target cells, activating downstream signaling cascades including MAPK pathways 2. In reproductive tissues, FSH stimulates follicle development, spermatogenesis, and steroidogenesis 3. FSHB gene expression represents the rate-limiting step for mature FSH production, regulated transcriptionally by GnRH signaling in gonadotropes 1. Beyond reproduction, FSH exhibits extragonadal roles in bone metabolism; FSHB variants and circulating FSH levels associate with osteoporosis risk through immune, lipid metabolic, and hormonal regulatory pathways 4. FSHB genetic variants (e.g., -211G>T) modulate FSH serum levels and testis size with modest effects on testicular function in healthy men 5. Clinically, FSHB mutations cause hypogonadotropic hypogonadism with or without anosmia. FSHB also shows pleiotropic effects across female reproductive health diagnoses, including roles in folliculogenesis and hormonal regulation 6. The FSHB locus exhibits genomic stability as a single-copy gene in a gene-poor region, distinguishing it from the duplicated LHB/CGB loci 7.

Sources cited
1
FSHB gene expression is rate-limiting for FSH production and is regulated transcriptionally by GnRH; FSHΞ² determines biological specificity of the gonadotropin
PMID: 30517625
2
FSH binds FSHR G protein-coupled receptor on target cells to activate downstream signaling pathways
PMID: 24692546
3
FSH is involved in follicle development
PMID: 407105
4
FSH is involved in spermatogenesis in reproductive organs
PMID: 8220432
5
FSHB demonstrates high predictive importance for osteoporosis; FSH regulation is a primary pathway influencing bone loss through immunity, lipid metabolism, and hormonal mechanisms
PMID: 39490735
6
FSHB -211G>T variant affects serum FSH levels and testis size with modest effects on testicular function in healthy men
PMID: 33236519
7
FSHB functions in hormonal regulation and folliculogenesis with pleiotropic effects across female reproductive health diagnoses
PMID: 40069456
8
FSHB is a single-copy gene located in a structurally stable gene-poor region at 11p13, representing a conservative vertebrate gene with unique function
PMID: 20488225
Disease Associationsβ“˜21
Isolated follicle stimulating hormone deficiencyOpen Targets
0.74Strong
hypogonadotropic hypogonadism 24 without anosmiaOpen Targets
0.71Strong
endometriosisOpen Targets
0.53Moderate
polycystic ovary syndromeOpen Targets
0.52Moderate
uterine fibroidOpen Targets
0.51Moderate
MenorrhagiaOpen Targets
0.49Moderate
Menstrual disorderOpen Targets
0.46Moderate
Ovarian cystOpen Targets
0.43Moderate
Uterine leiomyomaOpen Targets
0.42Moderate
positive regulation of ovulationOpen Targets
0.41Moderate
female reproductive system diseaseOpen Targets
0.41Moderate
adenomyosisOpen Targets
0.35Weak
OligomenorrheaOpen Targets
0.34Weak
Ovarian EndometriosisOpen Targets
0.34Weak
migraine disorderOpen Targets
0.34Weak
endometriosis of pelvic peritoneumOpen Targets
0.34Weak
hysterectomyOpen Targets
0.34Weak
PolymenorrheaOpen Targets
0.34Weak
Abnormal bleedingOpen Targets
0.34Weak
endometriosis of rectovaginal septum and vaginaOpen Targets
0.34Weak
Hypogonadotropic hypogonadism 24 with or without anosmiaUniProt
Pathogenic Variants5
NM_001382289.1(FSHB):c.236_237del (p.Val79fs)Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia|not provided
β˜…β˜…β˜†β˜†2019β†’ Residue 79
NM_001382289.1(FSHB):c.343C>T (p.Arg115Ter)Likely pathogenic
Hypogonadotropic hypogonadism 24 without anosmia
β˜†β˜†β˜†β˜†2016β†’ Residue 115
NM_001382289.1(FSHB):c.205T>G (p.Cys69Gly)Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia
β˜†β˜†β˜†β˜†2010β†’ Residue 69
NM_001382289.1(FSHB):c.282C>A (p.Tyr94Ter)Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia
β˜†β˜†β˜†β˜†2010β†’ Residue 94
NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg)Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia
β˜†β˜†β˜†β˜†2010β†’ Residue 100
View on ClinVar β†—
Related Genes
TSHRProtein interaction100%GNRH2Protein interaction100%KISS1RProtein interaction98%CGB5Protein interaction97%KISS1Protein interaction95%NR5A1Protein interaction95%
Tissue Expression6 tissues
Ovary
0%
Lung
0%
Heart
0%
Brain
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FSHBTSHRGNRH2KISS1RCGB5KISS1NR5A1
PROTEIN STRUCTURE
Preparing viewer…
PDB4AY9 Β· 2.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.62 [0.35–1.16]
RankingsWhere FSHB stands among ~20K protein-coding genes
  • #4,271of 20,598
    Most Researched111 Β· top quartile
  • #3,520of 5,498
    Most Pathogenic Variants5
  • #12,151of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedFSHB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Plasma proteomic profiles reveal proteins and three characteristic patterns associated with osteoporosis: A prospective cohort study.
PMID: 39490735
J Adv Res Β· 2025
1.00
2
Prioritizing effector genes at trait-associated loci using multimodal evidence.
PMID: 39930082
Nat Genet Β· 2025
0.90
3
Proteome-wide Mendelian randomization and functional studies uncover therapeutic targets for polycystic ovarian syndrome.
PMID: 39541979
Am J Hum Genet Β· 2024
0.80
4
Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
PMID: 40069456
Nat Med Β· 2025
0.70
5
Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci.
PMID: 20488225
Mol Cell Endocrinol Β· 2010
0.60